ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825128680
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2092452
ClinVar RCV Id:
RCV003016097
RCV004550344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Leu1390Arg
CA398997830
NM_000267.3:c.4169T>G